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| 中国汉族人群SCN5A基因H558R、P1090L、4299+53T＞C及D1819D的多态性研究 | |
| 引用本文： | 谭琛,浦介麟,曾治宇,王方正,滕思勇,陈剑虹,宿少勇,周晓阳,张澍,顾东风.中国汉族人群SCN5A基因H558R、P1090L、4299+53T＞C及D1819D的多态性研究[J].解放军医学杂志,2006,31(8):762-763. |
| 作者姓名： | 谭琛 浦介麟 曾治宇 王方正 滕思勇 陈剑虹 宿少勇 周晓阳 张澍 顾东风 |
| 作者单位： | 1. 100700,北京,北京军区总医院心肺血管病中心 2. 阜外心血管病医院心律失常诊治中心 3. 阜外心血管病医院群体遗传学及防治研究室 4. 国家人类基因研究组北方中心 |
| 摘 要： | 目的了解中国汉族人群SCN5A基因单核苷酸多态性少见等位基因频率分布情况。方法在社区体检人群中选择126例作为研究对象，采用限制性片段长度多态性分析（RFLP）对SCN5A基因的H558R、P1090L、4299＋53T〉C及CA457T（D1819D）多态位点进行基因型鉴定，并随机选取样本采用ABI3700毛细血管电泳进行序列测定验证酶切结果。结果SCN5A H558R、P1090L、4299＋53T〉C及C5457T（D1819D）在中国汉族人群中的少见等位基因频率分别为11．1％、5．2％、28．2％及31．8％，与日本及国人先前的研究结果不尽相同。结论SCN5A基因的单核苷酸多态性存在种族差异。 |
| 关 键 词： | 多态性 单核苷酸 心律失常 SCN5A 基因 |
| 收稿时间： | 2006-02-10 |
| 修稿时间： | 2006-06-30 |
Studies on single nucleotide polymorphisms of SCN5A gene |
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| Tan Chen, Pu Jielin, Zeng Zhiyu et al..Studies on single nucleotide polymorphisms of SCN5A gene[J].Medical Journal of Chinese People's Liberation Army,2006,31(8):762-763. | |
| Authors: | Tan Chen Pu Jielin Zeng Zhiyu |
| Institution: | Cardiopulmonary Vascular Center, General Hospital of Beijing Command, Beijing 100700, China |
| Abstract: | Objective To investigate the distribution of SCN5A gene polymorphisms in Chinese Han population. Methods 126 subjects were recruited from individuals participating in a community-based survey in Beijing Shijingshan district. Four SNPs of SCN5A gene H558R, P1090L, 4299 53T>C and C 5457T (D1819D) were genotyped by restriction fragment length polymorphism (RFLP) in all subjects. Results In Chinese Han population, minor allele frequencies of H558R, P1090L, 4299 53T>C and C 5457T (D1819D) were 11.1%, 5.2%, 28.2% and 31.8%, respectively. The minor allele frequency of SNPs was not same as study from Japanese or Chinese. Conclusion The distribution of SCN5A SNPs may vary between different ethnicities. |
| Keywords: | polymorphism single nucleotide arrhythmia genes SCN5A |
| 本文献已被 CNKI 维普 万方数据 等数据库收录！ | |